"Mendelics"[submitter] AND "SYNGAP1-AS1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685460	NM_006772.3(SYNGAP1):c.1481T>G (p.Ile494Arg)	SYNGAP1, SYNGAP1-AS1 (I494R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 1685461	NM_006772.3(SYNGAP1):c.1532-1G>C	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 802201	NM_006772.3(SYNGAP1):c.1618C>T (p.Gln540Ter)	SYNGAP1, SYNGAP1-AS1 (Q540*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 802202	NM_006772.3(SYNGAP1):c.2387del (p.Pro796fs)	SYNGAP1-AS1, SYNGAP1 (P782fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5 +1 more	GPathogenic
Select item 1686242	NM_006772.3(SYNGAP1):c.3078del (p.Asp1026fs)	SYNGAP1, SYNGAP1-AS1 (D1012fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 802203	NM_006772.3(SYNGAP1):c.3179del (p.Gly1060fs)	SYNGAP1, SYNGAP1-AS1 (G1046fs +1 more)	Deletion (frameshift variant)	SYNGAP1-related developmental and epileptic encephalopathy +1 more	GPathogenic
Select item 802204	NM_006772.3(SYNGAP1):c.3386T>C (p.Leu1129Pro)	SYNGAP1, SYNGAP1-AS1 (L1129P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 802205	NM_006772.3(SYNGAP1):c.3599dup (p.Glu1201fs)	SYNGAP1, SYNGAP1-AS1 (E1185fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic